A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225290



Internal ID22368472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:8803534..8819757hg38UCSC Ensembl
chr21:9692367..9708590hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3816224
hg1916224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299161, nssv14299159, nssv14298539, nssv14299160, nssv14298538, nssv14299158, nssv14298537, nssv14298540, nssv14298541
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225290
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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